Sökning: "subtelomeric FISH"

Hittade 4 avhandlingar innehållade orden subtelomeric FISH.

  1. 1. Mechanisms and Consequences of Chromosomal Instability in Malignant tumours

    Författare :Ylva Stewénius; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; structural rearrangement; Ewing family tumour; Chromosomal instability; nephroblastoma; Wilms tumour; chromosomal aberration; anaphase bridge; subtelomeric FISH; breakage-fusion-bridge cycle;

    Sammanfattning : In this thesis, telomere deficiency with subsequent anaphase bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with the presence of multipolar mitoses. LÄS MER

  2. 2. Gene dose imbalances in children with mental retardation

    Författare :Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

    Sammanfattning : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. LÄS MER

  3. 3. Cryptic chromosome abnormalities in idiopathic mental retardation

    Författare :Britt-Marie Anderlid; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mental retardation is a common disorder, affecting 1-3% of the population. In spite of improved diagnostic tools, the etiology can still not be established in half of the cases. Several lines of evidence indicate a genetic origin in a significant number of individuals with idiopathic mental retardation. LÄS MER

  4. 4. Trisomies in Hematologic Malignancies

    Författare :Kajsa Paulsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; cytogenetik; Genetik; cytogenetics; Genetics; leukemia; chromosome aberration; trisomy;

    Sammanfattning : Acquired clonal chromosome aberrations, closely associated with leukemogenesis, are found in many hematologic malignancies. Although the balanced rearrangements, such as translocations and inversions, are the ones most commonly thought of in the context of leukemias, gains of chromosomes ? e.g.. LÄS MER